Project 8p Research Newsletter – July 2023

This month’s Research Roundtable featured 8p researcher Dr. Jason Sheltzer from the Yale University School of Medicine. Dr. Sheltzer and his group are working on a project aimed at restoring normal chromosome copy number (disomy) in 8p iPS cells. The primary goal of this work is to create pairs of cell lines where the only difference between them is the 8p rearrangement (so-called “isogenic lines”). This will allow researchers to separate the impacts of the 8p CNV from those of the background genetic variation when it comes to studying the cellular biology of 8p or performing drug screens. In addition, this research will also help pave the way for chromosome therapies that can eventually be applied in vivo.  

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The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.
  • Lead with knowledge from patients. Currently, there is no cure for 8p disorders, nor is there a standard course of treatment.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Raise transformative funding for pioneering scientific research into treatments for a complex, rare disease involving 250+ affected genes on the short arm of the 8 th chromosome (8p). Rearrangements of these genes causes significant abnormalities to the entire neurological system, thus all organs and functions of the body– with variance in cognitive functions, gross motor skills, social development and other challenges during infancy, and throughout life;
  • Empower a unified community of 8p patients and their families so they can have meaningful lives today; and
  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.